Leigh syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings

American Journal of Neuroradiology

Volumn 24, Issue 6, 2003, Pages 1188-1191

  Rossi, Andrea ^a   Biancheri, Roberta ^a   Bruno, Claudio ^b   Di Rocco, Maja ^a   Calvi, Angela ^a   Pessagno, Alice ^a   Tortori Donati, Paolo ^a  

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CLINICAL FEATURE; CYTOCHROME C OXIDASE DEFICIENCY; DENTATE NUCLEUS; DISEASE ASSOCIATION; DISEASE COURSE; FEMALE; GENE; GENE MUTATION; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; LEIGH DISEASE; MALE; MEDULLA OBLONGATA; NERVE TRACT; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PUTAMEN; SUBSTANTIA NIGRA; SUBTHALAMIC NUCLEUS; SURF1 GENE; TEGMENTUM;

BASE PAIRING; BRAIN; BRAIN DISEASES, METABOLIC; CHILD, PRESCHOOL; CHROMOSOME DELETION; CYTOCHROME-C OXIDASE DEFICIENCY; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; EXONS; FATAL OUTCOME; FEMALE; FOLLOW-UP STUDIES; HETEROZYGOTE DETECTION; HUMANS; INFANT; INFANT, NEWBORN; INTRONS; LEIGH DISEASE; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MITOCHONDRIAL PROTEINS; MUTATION; PROTEINS; SPINAL CORD;

EID: 0038275810     PISSN: 01956108     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

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